A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
Miyazaki
T
T
Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University, Japan.
Kajita
M
M
Ohmori
S
S
Mizutani
N
N
Niwa
T
T
Murata
Y
Y
Seo
H
H
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D007564:Japan; D008239:Lysine; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
D018698:Glutamic Acid; D004247:DNA; D000519:alpha-Galactosidase; D008239:Lysine